Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping

Inactivating mutations in the genes encoding the two subunits of the pancreatic beta‐cell K(ATP) channel, ABCC8 and KCNJ11, are the most common finding in children with congenital hyperinsulinism (HI). Interpreting novel missense variants in these genes is problematic, because they can be either dom...

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Publicado en:Am J Med Genet A
Autores principales: Boodhansingh, Kara E., Kandasamy, Balamurugan, Mitteer, Lauren, Givler, Stephanie, De Leon, Diva D., Shyng, Show‐Ling, Ganguly, Arupa, Stanley, Charles A.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2019
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6852436/
https://ncbi.nlm.nih.gov/pubmed/31464105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.61335
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